Canonical Allele Identifier: CA373835306
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220954G>T , CM000671.2:g.91220954G>T GRCh38
NC_000009.11:g.93983236G>T , CM000671.1:g.93983236G>T GRCh37
NC_000009.10:g.93023057G>T NCBI36
NG_008017.1:g.145971C>A , LRG_449:g.145971C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.694C>A MANE Select ENSP00000364883.5:p.Leu232Met
ENST00000303617.5:c.607C>A ENSP00000307334.5:p.Leu203Met
ENST00000375731.8:c.694C>A ENSP00000364883.4:p.Leu232Met
NM_001306190.1:c.607C>A NP_001293119.1:p.Leu203Met
NM_001698.2:c.694C>A , LRG_449t1:c.694C>A NP_001689.1:p.Leu232Met
XM_005252066.2:c.724C>A XP_005252123.1:p.Leu242Met
XM_005252067.3:c.724C>A XP_005252124.1:p.Leu242Met
XM_005252069.3:c.724C>A XP_005252126.1:p.Leu242Met
XM_005252073.2:c.232C>A XP_005252130.1:p.Leu78Met
XM_006717150.2:c.637C>A XP_006717213.1:p.Leu213Met
XM_011518801.1:c.370C>A XP_011517103.1:p.Leu124Met
XM_011518802.1:c.367C>A XP_011517104.1:p.Leu123Met
NM_001351431.1:c.367C>A NP_001338360.1:p.Leu123Met
NM_001351432.1:c.367C>A NP_001338361.1:p.Leu123Met
NM_001351433.1:c.367C>A NP_001338362.1:p.Leu123Met
XM_005252066.3:c.724C>A XP_005252123.1:p.Leu242Met
XM_005252067.4:c.724C>A XP_005252124.1:p.Leu242Met
XM_005252069.4:c.724C>A XP_005252126.1:p.Leu242Met
XM_006717150.3:c.637C>A XP_006717213.1:p.Leu213Met
XM_017014849.1:c.694C>A XP_016870338.1:p.Leu232Met
XR_001746328.2:n.919C>A
XR_001746329.2:n.871C>A
NM_001698.3:c.694C>A MANE Select NP_001689.1:p.Leu232Met
NM_001306190.2:c.607C>A NP_001293119.1:p.Leu203Met
NM_001351431.2:c.367C>A NP_001338360.1:p.Leu123Met
NM_001351432.2:c.367C>A NP_001338361.1:p.Leu123Met
NM_001351433.2:c.367C>A NP_001338362.1:p.Leu123Met